Macrocephaly, and Short foot

Diseases related with Macrocephaly and Short foot

In the following list you will find some of the most common rare diseases related to Macrocephaly and Short foot that can help you solving undiagnosed cases.


Top matches:

High match NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS


NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome (RTT ) (summary by Yoo et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Macrocephaly
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS

High match ACHONDROGENESIS TYPE 1B


Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Talipes equinovarus
  • Anteverted nares


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1B

High match ACHONDROGENESIS TYPE 1A


Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1A

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Other less relevant matches:

High match AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME


An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME Is also known as kcs|kenny-caffey syndrome, autosomal recessive

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME

High match X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE


X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

High match 6Q16 DELETION SYNDROME


Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

High match X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE


X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE Is also known as mrxs30|mental retardation, x-linked, syndromic 30|x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

High match ACHONDROGENESIS, TYPE IA; ACG1A


The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (OMIM ), corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. Genetic Heterogeneity of AchondrogenesisAchondrogenesis type IB (ACG1B ) is caused by mutation in the DTDST gene (OMIM ), and achondrogenesis type II (ACG2 ) is caused by mutation in the COL2A1 gene (OMIM ).

ACHONDROGENESIS, TYPE IA; ACG1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about ACHONDROGENESIS, TYPE IA; ACG1A

High match PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE


Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.

PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE Is also known as platyspondylic dysplasia, torrance-luton type|thanatophoric dysplasia, torrance variant|lethal short-limbed platyspondylic dwarfism, torrance type|platyspondylic lethal skeletal dysplasia, torrance type|plsd-t

Related symptoms:

  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE

High match ISOLATED SEDOHEPTULOKINASE DEFICIENCY


SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Macrocephaly and Short foot

Symptoms // Phenotype % cases
Short neck Uncommon - Between 30% and 50% cases
Short palm Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Abnormality of cardiovascular system morphology Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Macrocephaly and Short foot. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Polyhydramnios Thin ribs Narrow chest Micromelia Intellectual disability Hydrops fetalis Short thorax Low-set ears Lethal skeletal dysplasia Short nose Flat face Cystic hygroma Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Umbilical hernia Severe short stature Femoral hernia Abnormal enchondral ossification Long philtrum Growth delay Anteverted nares Microcephaly Depressed nasal bridge Seizures Decreased skull ossification Short stature Global developmental delay

Rare Symptoms - Less than 30% cases


Hypoplastic ischia Hypertelorism Platyspondyly Wide mouth Abnormality of the skeletal system Macrotia Short ribs Hypoplastic scapulae Prominent nasal bridge Anemia Protuberant abdomen Severe postnatal growth retardation Full cheeks Malar flattening Intrauterine growth retardation Abdominal distention Severe platyspondyly Ventriculomegaly Disproportionate short stature Abnormality of the ribs Talipes equinovarus Small hand Cleft palate Inguinal hernia Broad clavicles Beaded ribs Unossified vertebral bodies Abnormal foot bone ossification Spotty hypopigmentation Broad face Prominent forehead Abnormal hand bone ossification Abnormality of the femoral metaphysis Multiple epiphyseal dysplasia Skeletal dysplasia Coarse facial features Echolalia Pulmonary hypoplasia Broad neck Short distal phalanx of finger Bowing of the long bones Abnormal hair whorl Limb undergrowth Disproportionate short-trunk short stature Epiphyseal dysplasia Premature birth Short chin Hypoplasia of the radius Corneal opacity Proptosis Respiratory failure Growth abnormality Hernia Almond-shaped palpebral fissure Thoracic hypoplasia Protruding tongue Edema Short clavicles Hypointensity of cerebral white matter on MRI Upper limb undergrowth Short long bone Regional abnormality of skin Barrel-shaped chest Ptosis Disproportionate short-limb short stature Diastasis recti Hypotelorism Cholestasis Large fontanelles Chronic diarrhea Arnold-Chiari malformation Adducted thumb Portal hypertension Hyperglycemia Steatorrhea Shallow orbits Breech presentation Hip dysplasia Recurrent hypoglycemia Cholestatic liver disease Hypochromic microcytic anemia Abnormality of the renal tubule Subcortical cerebral atrophy Hypochromic anemia Postprandial hyperglycemia Abnormal CNS myelination Neonatal asphyxia Abnormality of globe location Hepatitis Arthrogryposis multiplex congenita Genu varum Disc-like vertebral bodies Flared metaphysis Flat acetabular roof Hypoplastic pelvis Hypoplastic ilia Metaphyseal cupping Hypoplasia of the capital femoral epiphysis Abnormality of the abdominal wall Neonatal short-limb short stature Abnormality of the carpal bones Hypoplastic pubic bone Decreased cranial base ossification High forehead Severe limb shortening Hearing impairment Sensorineural hearing impairment Myeloid leukemia Flexion contracture Feeding difficulties Diarrhea Renal insufficiency Immunodeficiency Recurrent infections Narrow mouth Acute myeloid leukemia Narrow nose Broad hallux Birth length less than 3rd percentile Proportionate short stature Hypoparathyroidism Hypomagnesemia Tetany Delayed closure of the anterior fontanelle Generalized tonic seizures Long clavicles Hypocalcemic seizures Hypocalcemic tetany Thin clavicles Delayed cranial suture closure Cortical thickening of long bone diaphyses Congenital hypoparathyroidism Thin long bone diaphyses Stenosis of the medullary cavity of the long bones Calvarial osteosclerosis Hydrocephalus Intellectual disability, mild Microphthalmia Cerebellar hypoplasia Hyperkeratosis Slender long bone Recurrent bacterial infections Depressed nasal ridge Self-injurious behavior Gait disturbance Dysphagia Dystonia Apnea Developmental regression Generalized tonic-clonic seizures Inability to walk Sleep disturbance Abnormal autonomic nervous system physiology Agitation Hypocalcemia Hyperventilation Bruxism Developmental stagnation Breathing dysregulation Recurrent fractures Multiple rib fractures Failure to thrive Delayed skeletal maturation Postnatal growth retardation Carious teeth Short philtrum Rhizomelia Prominent supraorbital ridges Synophrys Midface retrusion Absent speech Upslanted palpebral fissure Micropenis Pes planus Deeply set eye Aggressive behavior Leukemia Nail dystrophy Poor speech Polyphagia Dry skin Thin vermilion border Hirsutism Downturned corners of mouth Hypopigmentation of the skin Nail dysplasia Wide intermamillary distance Low posterior hairline Increased body weight Generalized hirsutism Misalignment of teeth Microretrognathia Hypoplastic iliac wing High palate 11 pairs of ribs Metaphyseal chondrodysplasia Metaphyseal cupping of metacarpals Distal shortening of limbs Abnormality of the calcaneus Metaphyseal cupping of proximal phalanges Hypoplasia of the calcaneus Nystagmus Strabismus Muscular hypotonia Delayed speech and language development Round face Epicanthus Myopia Obesity Clinodactyly of the 5th finger Brachycephaly Autism EEG abnormality Autistic behavior Bulbous nose Tapered finger Increased urinary sedoheptulose



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