| . | 3-M syndrome . | Floating harbor syndrome . | IMAGe syndrome . | Isolated complex I deficiency . | Mulibrey nanism . | SHORT syndrome . | SOFT syndrome . | Silver–Russell syndrome . |
|---|---|---|---|---|---|---|---|---|
| Birthweight SDS | Mean −3.1 | Mean −2.5 | −2.0 to −4.0 | −1.3 to −2.7 | Mean −2.8 (range −4.0 to 0.5) | Mean −3.3 | −2.7 to −4.3 | Mean −2.7 |
| Adult height range (cm) | 115-150 | M: 106 to 164 F: 98 to 156 | M: 160 (n = 1) F: 142 (n = 1) | Not reported | 136-150 | Mean 154 | 112 to 127 cm | Mean 151 |
| Cognitive function | Normal | Variable Delayed speech | Normal | Normal | Mild motor and speech delay | Normal | Normal social and motor development | Variable |
| Main features | Dolichocephaly, triangular face, prominent heels, pectus deformity, short thorax, winged scapulae, hyperlordosis, hip dysplasia, slender long bones and vertebral bodies | Delayed bone age, expressive language delay, triangular face, prominent nose, deep set eyes | Metaphyseal dysplasia, congenital adrenal hypoplasia, male genital anomalies | Prominent forehead, long thin philtrum, may have raised lactate, hypertrophic cardiomyopathy, Wolf–Parkinson–White syndrome | Triangular face, short broad neck, misshapen sternum, hepatomegaly, increased tumor risk (Wilms, ovarian stromal) | S—short stature H—hyperextensibility of joints/inguinal hernia O—ocular depression R—Rieger anomaly T—teething delay | Triangular face, hypotrichosis, onychodysplasia, short long bones, hypogonadism, high pitched voice | Macrocephaly, triangular face, downturned mouth, limb asymmetry, feeding difficulties, fifth finger clinodactyly, brachydactyly, syndactyly, hypospadias, cryptorchidism, café au lait spots |
| Inheritance | AR | AD | Paternally imprinted | AR | AR | AD | AR | Most de novo |
| Genetics | CUL7, OBSL1 (exons 1-9), CCDC8 mutations | SRCAP mutations | CDKN1C mutations | c.64T>C, p.Trp22Arg NDUFB3 mutation | TRIM37 mutations High prevalence in Finnish population | PIK3R1 mutations | POC1A mutations | 11p15 loss of methylation, maternal UPD chromosome 7 |
| . | 3-M syndrome . | Floating harbor syndrome . | IMAGe syndrome . | Isolated complex I deficiency . | Mulibrey nanism . | SHORT syndrome . | SOFT syndrome . | Silver–Russell syndrome . |
|---|---|---|---|---|---|---|---|---|
| Birthweight SDS | Mean −3.1 | Mean −2.5 | −2.0 to −4.0 | −1.3 to −2.7 | Mean −2.8 (range −4.0 to 0.5) | Mean −3.3 | −2.7 to −4.3 | Mean −2.7 |
| Adult height range (cm) | 115-150 | M: 106 to 164 F: 98 to 156 | M: 160 (n = 1) F: 142 (n = 1) | Not reported | 136-150 | Mean 154 | 112 to 127 cm | Mean 151 |
| Cognitive function | Normal | Variable Delayed speech | Normal | Normal | Mild motor and speech delay | Normal | Normal social and motor development | Variable |
| Main features | Dolichocephaly, triangular face, prominent heels, pectus deformity, short thorax, winged scapulae, hyperlordosis, hip dysplasia, slender long bones and vertebral bodies | Delayed bone age, expressive language delay, triangular face, prominent nose, deep set eyes | Metaphyseal dysplasia, congenital adrenal hypoplasia, male genital anomalies | Prominent forehead, long thin philtrum, may have raised lactate, hypertrophic cardiomyopathy, Wolf–Parkinson–White syndrome | Triangular face, short broad neck, misshapen sternum, hepatomegaly, increased tumor risk (Wilms, ovarian stromal) | S—short stature H—hyperextensibility of joints/inguinal hernia O—ocular depression R—Rieger anomaly T—teething delay | Triangular face, hypotrichosis, onychodysplasia, short long bones, hypogonadism, high pitched voice | Macrocephaly, triangular face, downturned mouth, limb asymmetry, feeding difficulties, fifth finger clinodactyly, brachydactyly, syndactyly, hypospadias, cryptorchidism, café au lait spots |
| Inheritance | AR | AD | Paternally imprinted | AR | AR | AD | AR | Most de novo |
| Genetics | CUL7, OBSL1 (exons 1-9), CCDC8 mutations | SRCAP mutations | CDKN1C mutations | c.64T>C, p.Trp22Arg NDUFB3 mutation | TRIM37 mutations High prevalence in Finnish population | PIK3R1 mutations | POC1A mutations | 11p15 loss of methylation, maternal UPD chromosome 7 |
3-M syndrome has a wide differential diagnosis. Syndromes with macrocephaly and normocephaly have been included. Differential diagnoses include isolated complex I deficiency, caused by a specific NDUFB3 mutation, as demonstrated by Cases 3 and 4.
Abbreviations: AR, autosomal recessive; AD, autosomal dominant.
| . | 3-M syndrome . | Floating harbor syndrome . | IMAGe syndrome . | Isolated complex I deficiency . | Mulibrey nanism . | SHORT syndrome . | SOFT syndrome . | Silver–Russell syndrome . |
|---|---|---|---|---|---|---|---|---|
| Birthweight SDS | Mean −3.1 | Mean −2.5 | −2.0 to −4.0 | −1.3 to −2.7 | Mean −2.8 (range −4.0 to 0.5) | Mean −3.3 | −2.7 to −4.3 | Mean −2.7 |
| Adult height range (cm) | 115-150 | M: 106 to 164 F: 98 to 156 | M: 160 (n = 1) F: 142 (n = 1) | Not reported | 136-150 | Mean 154 | 112 to 127 cm | Mean 151 |
| Cognitive function | Normal | Variable Delayed speech | Normal | Normal | Mild motor and speech delay | Normal | Normal social and motor development | Variable |
| Main features | Dolichocephaly, triangular face, prominent heels, pectus deformity, short thorax, winged scapulae, hyperlordosis, hip dysplasia, slender long bones and vertebral bodies | Delayed bone age, expressive language delay, triangular face, prominent nose, deep set eyes | Metaphyseal dysplasia, congenital adrenal hypoplasia, male genital anomalies | Prominent forehead, long thin philtrum, may have raised lactate, hypertrophic cardiomyopathy, Wolf–Parkinson–White syndrome | Triangular face, short broad neck, misshapen sternum, hepatomegaly, increased tumor risk (Wilms, ovarian stromal) | S—short stature H—hyperextensibility of joints/inguinal hernia O—ocular depression R—Rieger anomaly T—teething delay | Triangular face, hypotrichosis, onychodysplasia, short long bones, hypogonadism, high pitched voice | Macrocephaly, triangular face, downturned mouth, limb asymmetry, feeding difficulties, fifth finger clinodactyly, brachydactyly, syndactyly, hypospadias, cryptorchidism, café au lait spots |
| Inheritance | AR | AD | Paternally imprinted | AR | AR | AD | AR | Most de novo |
| Genetics | CUL7, OBSL1 (exons 1-9), CCDC8 mutations | SRCAP mutations | CDKN1C mutations | c.64T>C, p.Trp22Arg NDUFB3 mutation | TRIM37 mutations High prevalence in Finnish population | PIK3R1 mutations | POC1A mutations | 11p15 loss of methylation, maternal UPD chromosome 7 |
| . | 3-M syndrome . | Floating harbor syndrome . | IMAGe syndrome . | Isolated complex I deficiency . | Mulibrey nanism . | SHORT syndrome . | SOFT syndrome . | Silver–Russell syndrome . |
|---|---|---|---|---|---|---|---|---|
| Birthweight SDS | Mean −3.1 | Mean −2.5 | −2.0 to −4.0 | −1.3 to −2.7 | Mean −2.8 (range −4.0 to 0.5) | Mean −3.3 | −2.7 to −4.3 | Mean −2.7 |
| Adult height range (cm) | 115-150 | M: 106 to 164 F: 98 to 156 | M: 160 (n = 1) F: 142 (n = 1) | Not reported | 136-150 | Mean 154 | 112 to 127 cm | Mean 151 |
| Cognitive function | Normal | Variable Delayed speech | Normal | Normal | Mild motor and speech delay | Normal | Normal social and motor development | Variable |
| Main features | Dolichocephaly, triangular face, prominent heels, pectus deformity, short thorax, winged scapulae, hyperlordosis, hip dysplasia, slender long bones and vertebral bodies | Delayed bone age, expressive language delay, triangular face, prominent nose, deep set eyes | Metaphyseal dysplasia, congenital adrenal hypoplasia, male genital anomalies | Prominent forehead, long thin philtrum, may have raised lactate, hypertrophic cardiomyopathy, Wolf–Parkinson–White syndrome | Triangular face, short broad neck, misshapen sternum, hepatomegaly, increased tumor risk (Wilms, ovarian stromal) | S—short stature H—hyperextensibility of joints/inguinal hernia O—ocular depression R—Rieger anomaly T—teething delay | Triangular face, hypotrichosis, onychodysplasia, short long bones, hypogonadism, high pitched voice | Macrocephaly, triangular face, downturned mouth, limb asymmetry, feeding difficulties, fifth finger clinodactyly, brachydactyly, syndactyly, hypospadias, cryptorchidism, café au lait spots |
| Inheritance | AR | AD | Paternally imprinted | AR | AR | AD | AR | Most de novo |
| Genetics | CUL7, OBSL1 (exons 1-9), CCDC8 mutations | SRCAP mutations | CDKN1C mutations | c.64T>C, p.Trp22Arg NDUFB3 mutation | TRIM37 mutations High prevalence in Finnish population | PIK3R1 mutations | POC1A mutations | 11p15 loss of methylation, maternal UPD chromosome 7 |
3-M syndrome has a wide differential diagnosis. Syndromes with macrocephaly and normocephaly have been included. Differential diagnoses include isolated complex I deficiency, caused by a specific NDUFB3 mutation, as demonstrated by Cases 3 and 4.
Abbreviations: AR, autosomal recessive; AD, autosomal dominant.
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